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MOMO syndrome

MOMO syndrome is an extremely rare genetic disorder which belongs to the overgrowth syndromes and has been diagnosed in only four cases around the world. The name is an acronym of the four primary aspects of the disorder: Macrosomia (excessive birth weight), Obesity, Macrocephaly (excessive head size) and Ocular abnormalities. It was first diagnosed in 1993 by Professor Célia Priszkulnik Koiffmann, a Brazilian researcher in the Genetic and Clinical Studies of neurodevelopmental disorders. more...

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Signs and symptoms

Along with the four aspects of the disorder that give it its name, there are also other common symptoms:

  • A downward slant of the forehead
  • Delayed bone maturation
  • Mental retardation

The ocular abnormalities are generally retinal coloboma and nystagmus.

Pathophysiology

Being such a rare disorder, very few studies have been conducted into its causes. Current research suggests that it is linked to a de novo (new) autosomal dominant mutation .

Confirmed cases

Archie Thompson was born in 2002 in Icklesham, England and weighed 8 lb 4 oz (3740 g). By 15 months his weight had increased to 4 stone (56 lb; 25 kg) and by 24 months it was up to 6 stone (84 pounds; 38 kg). The condition placed a large strain on his heart and lungs. The Thompson family were featured in a documentary for Five first shown on 3 October 2004.

Danielli Furton, from São Paulo, Brazil, is one of the oldest surviving sufferers of MOMO syndrome. At age 17 she was featured in the Archie Thompson documentary as his mother travelled to visit her. Furton attended school as normal, though her physical and mental conditions prevented her from progressing as well as the other students.

Two other cases have been diagnosed, one in Italy and a second in Brazil .

Read more at Wikipedia.org


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Pandora
From Independent, The (London), 4/27/99

EWAN MCGREGOR (pictured), topliner of the big summer Star Wars prequel, doesn't go to Knuckle Junction. "I can talk a good fight but I'd run a mile if one ever happened," McGregor says. "I had a fight once but I just got punched to the floor and that was it." The refreshingly unstereotypical Scot may have to make some attitude adjustments when the much-hyped movie eventually hits our cinemas. "Suddenly all these people are coming up to me with posters to sign," the pacific thesp says, "`May the Force be with you.' People have actually said that to me... I think that's quite batty."

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Copyright 1999 Newspaper Publishing PLC
Provided by ProQuest Information and Learning Company. All rights Reserved.

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